Mutagenetix > Incidental Mutation

Incidental Mutation 'R1258:Ypel1'

151525

Institutional Source

Beutler Lab

Gene Symbol

Ypel1

Ensembl Gene

ENSMUSG00000022773

Gene Name

yippee like 1

Synonyms

1700016N17Rik, Dgl1, Ppil2, 1700019O22Rik, mdgl-1, 0610009L05Rik, 4921520K19Rik, 4930511F14Rik

MMRRC Submission

039325-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16887560-16904909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16923917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 44 (L44H)

Ref Sequence

ENSEMBL: ENSMUSP00000156086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023455] [ENSMUST00000115719] [ENSMUST00000115721] [ENSMUST00000164458] [ENSMUST00000231245] [ENSMUST00000231451] [ENSMUST00000231712] [ENSMUST00000232481]

AlphaFold

Q9ESC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023455
AA Change: L44H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023455
Gene: ENSMUSG00000022771
AA Change: L44H

Domain	Start	End	E-Value	Type
Ubox	42	101	2.53e-14	SMART
Pfam:Pro_isomerase	281	433	1.3e-50	PFAM
low complexity region	493	507	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115719
AA Change: L44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111384
Gene: ENSMUSG00000022771
AA Change: L44H

Domain	Start	End	E-Value	Type
Ubox	42	101	2.53e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115721
AA Change: L44H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111386
Gene: ENSMUSG00000022771
AA Change: L44H

Domain	Start	End	E-Value	Type
Ubox	42	101	2.53e-14	SMART
Pfam:Pro_isomerase	281	433	3.7e-53	PFAM
low complexity region	493	507	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153927

Predicted Effect

probably damaging
Transcript: ENSMUST00000164458
AA Change: L44H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131422
Gene: ENSMUSG00000022771
AA Change: L44H

Domain	Start	End	E-Value	Type
Ubox	42	101	2.53e-14	SMART
Pfam:Pro_isomerase	281	433	1.3e-50	PFAM
low complexity region	493	507	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156521

Predicted Effect

probably damaging
Transcript: ENSMUST00000231245
AA Change: L44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231451
AA Change: L44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231712
AA Change: L44H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231536

Predicted Effect

probably benign
Transcript: ENSMUST00000232481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232510

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,539,176 (GRCm39)	E112G	probably damaging	Het
Ccar2	T	C	14: 70,390,122 (GRCm39)	N17D	probably benign	Het
Dnajc9	G	A	14: 20,438,765 (GRCm39)		probably null	Het
Igsf9	G	A	1: 172,319,722 (GRCm39)	R339H	probably benign	Het
Inpp5a	G	T	7: 139,105,660 (GRCm39)	G212C	probably damaging	Het
Itsn2	A	G	12: 4,723,464 (GRCm39)	E1133G	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Pcdhb17	A	T	18: 37,618,587 (GRCm39)	I126L	probably damaging	Het
Qtrt2	A	G	16: 43,689,446 (GRCm39)	V184A	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Sall3	G	A	18: 81,017,280 (GRCm39)	A216V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
St8sia6	T	C	2: 13,661,695 (GRCm39)	M379V	probably benign	Het
Ubr4	T	A	4: 139,154,225 (GRCm39)	L2144H	probably damaging	Het
Ythdf1	C	A	2: 180,553,103 (GRCm39)	A371S	probably benign	Het
Zdhhc16	G	A	19: 41,926,483 (GRCm39)	V89M	possibly damaging	Het
Zfp37	A	T	4: 62,110,054 (GRCm39)	Y375N	probably damaging	Het
Zmat3	A	T	3: 32,397,820 (GRCm39)	N147K	probably damaging	Het

Other mutations in Ypel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Ypel1	APN	16	16,909,076 (GRCm39)	missense	probably damaging	1.00
IGL02392:Ypel1	APN	16	16,906,702 (GRCm39)	missense	probably benign
IGL02559:Ypel1	APN	16	16,927,515 (GRCm39)	missense	possibly damaging	0.80
IGL02708:Ypel1	APN	16	16,923,872 (GRCm39)	missense	probably benign	0.03
IGL02724:Ypel1	APN	16	16,921,466 (GRCm39)	missense	probably benign	0.08
zagnut	UTSW	16	16,913,905 (GRCm39)	missense	possibly damaging	0.62
R0592:Ypel1	UTSW	16	16,925,083 (GRCm39)	missense	probably benign
R0975:Ypel1	UTSW	16	16,925,077 (GRCm39)	missense	probably benign	0.00
R1594:Ypel1	UTSW	16	16,899,985 (GRCm39)	missense	probably damaging	1.00
R1677:Ypel1	UTSW	16	16,921,474 (GRCm39)	missense	probably damaging	1.00
R1728:Ypel1	UTSW	16	16,907,283 (GRCm39)	unclassified	probably benign
R1739:Ypel1	UTSW	16	16,907,283 (GRCm39)	unclassified	probably benign
R1784:Ypel1	UTSW	16	16,907,283 (GRCm39)	unclassified	probably benign
R1853:Ypel1	UTSW	16	16,925,087 (GRCm39)	missense	probably benign	0.00
R1856:Ypel1	UTSW	16	16,899,511 (GRCm39)	splice site	probably null
R1921:Ypel1	UTSW	16	16,900,443 (GRCm39)	missense	probably benign	0.00
R3608:Ypel1	UTSW	16	16,910,154 (GRCm39)	nonsense	probably null
R3769:Ypel1	UTSW	16	16,927,532 (GRCm39)	missense	probably benign	0.30
R4445:Ypel1	UTSW	16	16,921,464 (GRCm39)	nonsense	probably null
R4518:Ypel1	UTSW	16	16,913,905 (GRCm39)	missense	possibly damaging	0.62
R5066:Ypel1	UTSW	16	16,927,539 (GRCm39)	missense	probably benign	0.03
R5085:Ypel1	UTSW	16	16,902,472 (GRCm39)	splice site	probably null
R5842:Ypel1	UTSW	16	16,912,851 (GRCm39)	missense	possibly damaging	0.66
R6013:Ypel1	UTSW	16	16,918,129 (GRCm39)	missense	probably damaging	1.00
R6030:Ypel1	UTSW	16	16,902,377 (GRCm39)	splice site	probably null
R6030:Ypel1	UTSW	16	16,902,377 (GRCm39)	splice site	probably null
R6415:Ypel1	UTSW	16	16,921,438 (GRCm39)	critical splice donor site	probably null
R6978:Ypel1	UTSW	16	16,902,438 (GRCm39)	missense	probably benign	0.01
R7735:Ypel1	UTSW	16	16,918,124 (GRCm39)	missense	probably benign	0.11
R8865:Ypel1	UTSW	16	16,915,269 (GRCm39)	missense	probably benign	0.02
R9173:Ypel1	UTSW	16	16,915,298 (GRCm39)	nonsense	probably null
R9720:Ypel1	UTSW	16	16,910,890 (GRCm39)	missense	probably damaging	0.99
RF014:Ypel1	UTSW	16	16,915,282 (GRCm39)	missense	probably damaging	1.00
X0010:Ypel1	UTSW	16	16,912,901 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- ACCCTGCTTAGAGCCACAAACTCTAT -3'
(R):5'- TGGGCTGCTGCTGCCTCAA -3'

Sequencing Primer
(F):5'- atgaagaacaacagagaaagcc -3'
(R):5'- TGCTGCCTCAAGTACTAAGG -3'

Posted On

2014-01-29